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Safdar Abbas

Showing results (31-40 of 57) with videos related to

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Biochemical Genetics|January 6, 2025
A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing LossM Muaaz Aslam, Safdar Abbas, Shoaib Nawaz, et al.
Journal of Genetics|July 5, 2017
Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM geneMuzammil Ahmad Khan, Christian Windpassinger, Muhammad Zeeshan Ali, et al.
Chemical Communications (Cambridge, England)|June 10, 2025
Self-assembly of ruthenium-doped oxygen-deficient tungsten oxide as an efficient electrocatalyst for the hydrogen evolution reaction in acidic environmentsElhussein Desoki Helal, Wenhai Xu, Yizhe Li, et al.
Small (Weinheim an Der Bergstrasse, Germany)|June 19, 2025
Dual-Functional Phosphorus-Doped Iron Single-Atom Catalyst on Reduced Graphene Oxide for Efficient Lithium-Sulfur Batteries: Simultaneous Polysulfides Trapping/Catalysis and Lithium Deposition RegulationAbdul Hameed Pato, Longtao Ren, Imran Ali Chandio, et al.
Toxicon : Official Journal of the International Society on Toxinology|January 28, 2021
Saponin toxicity as key player in plant defense against pathogensMadiha Zaynab, Yasir Sharif, Safdar Abbas, et al.
The Journal of Gene Medicine|May 13, 2023
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genesShazia Khan, Muhammad Umair, Safdar Abbas, et al.
Frontiers in Genetics|January 29, 2024
Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorderTayyaba Afsar, Hongxia Fu, Hammal Khan, et al.
Molecular Genetics & Genomic Medicine|July 12, 2019
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 geneMuhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer, et al.
Frontiers in Pediatrics|September 27, 2019
Biallelic Missense Mutation in the <i>ECEL1</i> Underlies Distal Arthrogryposis Type 5 (DA5D)Muhammad Umair, Amjad Khan, Amir Hayat, et al.
Heliyon|August 21, 2024
Biallelic <i>HMGXB4</i> loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic featuresFuad Al Mutairi, Faisal Joueidi, Maha Alshalan, et al.
Pageof 6

Showing results (31-40 of 57) with videos related to

Sort By:
Pageof 6
Biochemical Genetics|January 6, 2025
A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing LossM Muaaz Aslam, Safdar Abbas, Shoaib Nawaz, et al.
Journal of Genetics|July 5, 2017
Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM geneMuzammil Ahmad Khan, Christian Windpassinger, Muhammad Zeeshan Ali, et al.
Chemical Communications (Cambridge, England)|June 10, 2025
Self-assembly of ruthenium-doped oxygen-deficient tungsten oxide as an efficient electrocatalyst for the hydrogen evolution reaction in acidic environmentsElhussein Desoki Helal, Wenhai Xu, Yizhe Li, et al.
Small (Weinheim an Der Bergstrasse, Germany)|June 19, 2025
Dual-Functional Phosphorus-Doped Iron Single-Atom Catalyst on Reduced Graphene Oxide for Efficient Lithium-Sulfur Batteries: Simultaneous Polysulfides Trapping/Catalysis and Lithium Deposition RegulationAbdul Hameed Pato, Longtao Ren, Imran Ali Chandio, et al.
Toxicon : Official Journal of the International Society on Toxinology|January 28, 2021
Saponin toxicity as key player in plant defense against pathogensMadiha Zaynab, Yasir Sharif, Safdar Abbas, et al.
The Journal of Gene Medicine|May 13, 2023
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genesShazia Khan, Muhammad Umair, Safdar Abbas, et al.
Frontiers in Genetics|January 29, 2024
Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorderTayyaba Afsar, Hongxia Fu, Hammal Khan, et al.
Molecular Genetics & Genomic Medicine|July 12, 2019
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 geneMuhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer, et al.
Frontiers in Pediatrics|September 27, 2019
Biallelic Missense Mutation in the <i>ECEL1</i> Underlies Distal Arthrogryposis Type 5 (DA5D)Muhammad Umair, Amjad Khan, Amir Hayat, et al.
Heliyon|August 21, 2024
Biallelic <i>HMGXB4</i> loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic featuresFuad Al Mutairi, Faisal Joueidi, Maha Alshalan, et al.
Pageof 6